{"id":"https://openalex.org/W2011312913","doi":"https://doi.org/10.1159/000174398","title":"Equivocal and Borderline Myocardial Hypertrophy in Relatives of Patients with Hypertrophic Cardiomyopathy: Possible Implications in Genetics of the Disease","display_name":"Equivocal and Borderline Myocardial Hypertrophy in Relatives of Patients with Hypertrophic Cardiomyopathy: Possible Implications in Genetics of the Disease","publication_year":2008,"publication_date":"2008-11-11","ids":{"openalex":"https://openalex.org/W2011312913","doi":"https://doi.org/10.1159/000174398","mag":"2011312913","pmid":"https://pubmed.ncbi.nlm.nih.gov/3233616"},"language":"en","primary_location":{"id":"doi:10.1159/000174398","doi":"https://doi.org/10.1159/000174398","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000174398","pdf_url":null,"source":{"id":"https://openalex.org/S4210184113","display_name":"Cardiology","issn_l":"0008-6312","issn":["0008-6312","1421-9751"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cardiology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5019872175","display_name":"Camillo Autore","orcid":"https://orcid.org/0000-0002-6542-7342","observed_orcids":["https://orcid.org/0000-0002-6542-7342"]},"institutions":[{"id":"https://openalex.org/I116067653","display_name":"University of Rome Tor Vergata","ror":"https://ror.org/02p77k626","country_code":"IT","type":"education","lineage":["https://openalex.org/I116067653"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Camillo Autore","raw_affiliation_strings":["Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia","institution_ids":["https://openalex.org/I116067653"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029157366","display_name":"Pietro Vincenzo Fragola","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I116067653","display_name":"University of Rome Tor Vergata","ror":"https://ror.org/02p77k626","country_code":"IT","type":"education","lineage":["https://openalex.org/I116067653"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Pietro Vincenzo Fragola","raw_affiliation_strings":["Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia","institution_ids":["https://openalex.org/I116067653"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064906889","display_name":"Antonella Picelli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I116067653","display_name":"University of Rome Tor Vergata","ror":"https://ror.org/02p77k626","country_code":"IT","type":"education","lineage":["https://openalex.org/I116067653"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Antonella Picelli","raw_affiliation_strings":["Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia","institution_ids":["https://openalex.org/I116067653"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068287120","display_name":"Anna Maria Maccari","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I116067653","display_name":"University of Rome Tor Vergata","ror":"https://ror.org/02p77k626","country_code":"IT","type":"education","lineage":["https://openalex.org/I116067653"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Anna Maria Maccari","raw_affiliation_strings":["Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia","institution_ids":["https://openalex.org/I116067653"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087590356","display_name":"Giancarlo Ruscitti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I116067653","display_name":"University of Rome Tor Vergata","ror":"https://ror.org/02p77k626","country_code":"IT","type":"education","lineage":["https://openalex.org/I116067653"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giancarlo Ruscitti","raw_affiliation_strings":["Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia","institution_ids":["https://openalex.org/I116067653"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076977352","display_name":"Dario Cannata","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I116067653","display_name":"University of Rome Tor Vergata","ror":"https://ror.org/02p77k626","country_code":"IT","type":"education","lineage":["https://openalex.org/I116067653"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Dario Cannata","raw_affiliation_strings":["Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Medicina Interna, II Universit\u00e0 degli Studi di Roma, Italia","institution_ids":["https://openalex.org/I116067653"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5080068969","display_name":"Mario Sangiorgi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mario Sangiorgi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.16815536,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"75","issue":"5","first_page":"348","last_page":"356"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11922","display_name":"Cardiovascular Effects of Exercise","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11112","display_name":"Viral Infections and Immunology Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2725","display_name":"Infectious Diseases"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hypertrophic-cardiomyopathy","display_name":"hypertrophic cardiomyopathy","score":1.0},{"id":"https://openalex.org/keywords/first-degree-relatives","display_name":"first-degree relatives","score":0.828000009059906},{"id":"https://openalex.org/keywords/familial-hypertrophic-cardiomyopathy","display_name":"familial hypertrophic cardiomyopathy","score":0.8349999785423279},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9509999752044678},{"id":"https://openalex.org/keywords/genetic-transmission","display_name":"genetic transmission","score":0.5979999899864197},{"id":"https://openalex.org/keywords/left-ventricular-wall-thickness","display_name":"left ventricular wall thickness","score":0.746999979019165},{"id":"https://openalex.org/keywords/latent-disease","display_name":"latent disease","score":0.3610000014305115},{"id":"https://openalex.org/keywords/phenotypic-expression","display_name":"phenotypic expression","score":0.7059999704360962}],"concepts":[{"id":"https://openalex.org/C2780185194","wikidata":"https://www.wikidata.org/wiki/Q1364270","display_name":"Hypertrophic cardiomyopathy","level":2,"score":0.7991302013397217},{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.7787648439407349},{"id":"https://openalex.org/C2776002628","wikidata":"https://www.wikidata.org/wiki/Q1628627","display_name":"Left ventricular hypertrophy","level":3,"score":0.736195981502533},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.6509300470352173},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6256161332130432},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5815739631652832},{"id":"https://openalex.org/C167414201","wikidata":"https://www.wikidata.org/wiki/Q1955391","display_name":"Muscle hypertrophy","level":2,"score":0.5494198799133301},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.5354129672050476},{"id":"https://openalex.org/C3018418570","wikidata":"https://www.wikidata.org/wiki/Q1729124","display_name":"Myocardial hypertrophy","level":3,"score":0.515866219997406},{"id":"https://openalex.org/C2779862289","wikidata":"https://www.wikidata.org/wiki/Q25098571","display_name":"First-degree relatives","level":3,"score":0.47985929250717163},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.45893594622612},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.42127349972724915},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.3665567636489868},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1833629012107849},{"id":"https://openalex.org/C84393581","wikidata":"https://www.wikidata.org/wiki/Q82642","display_name":"Blood pressure","level":2,"score":0.12121328711509705},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.098165363073349},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.07115045189857483},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001145","descriptor_name":"Arrhythmias, Cardiac","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002312","descriptor_name":"Cardiomyopathy, Hypertrophic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002312","descriptor_name":"Cardiomyopathy, Hypertrophic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004452","descriptor_name":"Echocardiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004562","descriptor_name":"Electrocardiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015150","descriptor_name":"Echocardiography, Doppler","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1159/000174398","doi":"https://doi.org/10.1159/000174398","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000174398","pdf_url":null,"source":{"id":"https://openalex.org/S4210184113","display_name":"Cardiology","issn_l":"0008-6312","issn":["0008-6312","1421-9751"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cardiology","raw_type":"journal-article"},{"id":"pmid:3233616","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3233616","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cardiology","raw_type":"Journal Article"},{"id":"pmh:oai:iris.uniroma1.it:11573/74321","doi":null,"is_oa":false,"landing_page_url":"http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=A1988R180900005&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a","pdf_url":null,"source":{"id":"https://openalex.org/S4377196107","display_name":"IRIS Research product catalog (Sapienza University of Rome)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2050971378","https://openalex.org/W1979225811","https://openalex.org/W7100048998","https://openalex.org/W2103503157","https://openalex.org/W2398440360","https://openalex.org/W2048654763","https://openalex.org/W2417695830","https://openalex.org/W2606353490","https://openalex.org/W2083715801","https://openalex.org/W7223556052"],"abstract_inverted_index":{"To":[0],"determine":[1],"the":[2,131,162,195],"occurrence":[3,196],"of":[4,9,16,31,45,62,65,69,72,79,93,109,121,130,135,161,166,169,176,186,189,197,202],"familial":[5,70,200],"and":[6,26,171,199],"sporadic":[7,198],"forms":[8,71,201],"hypertrophic":[10],"cardiomyopathy":[11],"(HC)":[12],"74":[13],"first-degree":[14],"relatives":[15,37,88,138,175],"21":[17],"patients":[18,177],"with":[19,74,178],"proven":[20],"HC":[21,32,73,122,179,203],"were":[22,51,113],"studied":[23],"by":[24,91],"M-mode":[25],"two-dimensional":[27],"echocardiography.":[28],"A":[29],"diagnosis":[30],"was":[33,41,101,155],"made":[34,102],"in":[35,43,81,119,174],"11":[36],"(15%)":[38],"while":[39],"it":[40],"excluded":[42],"61":[44,136],"them":[46],"(82%);":[47],"2":[48],"subjects":[49],"(3%)":[50],"considered":[52],"neither":[53],"affected":[54],"nor":[55],"unaffected":[56,90,137],"(borderline":[57],"left":[58,110,141],"ventricular":[59,111,142],"hypertrophy":[60,173],"suggestive":[61],"HC).":[63],"Inspection":[64],"pedigrees":[66],"revealed":[67],"38%":[68],"an":[75,99],"autosomal":[76],"dominant":[77],"pattern":[78],"inheritance":[80],"5/8":[82],"families":[83],"(62%).":[84],"Furthermore,":[85],"among":[86],"those":[87],"judged":[89],"means":[92],"full":[94],"echocardiographic":[95],"criteria":[96],"for":[97,115,182],"HC,":[98],"attempt":[100],"to":[103],"find":[104],"out":[105,134],"whether":[106],"minor":[107],"changes":[108],"geometry":[112],"present":[114],"their":[116],"possible":[117],"implications":[118],"genetics":[120],"(latent":[123],"or":[124],"potential":[125],"forms,":[126],"low":[127],"phenotypic":[128],"expression":[129],"disease).":[132],"Eleven":[133],"had":[139],"a":[140,152,183],"wall":[143],"thickness":[144],"radius":[145],"ratio":[146],"greater":[147],"than":[148,157],"0.50":[149],"(equivocal":[150],"hypertrophy),":[151],"value":[153],"that":[154],"higher":[156],"two":[158],"standard":[159],"deviations":[160],"control":[163],"group.":[164],"Assessment":[165],"clinical":[167],"significance":[168],"borderline":[170],"equivocal":[172],"is":[180],"required":[181],"better":[184],"understanding":[185],"genetic":[187],"transmission":[188],"this":[190,193],"disease.":[191],"In":[192],"view":[194],"might":[204],"be":[205],"revisited.":[206]},"counts_by_year":[{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
